Thalassemia carrier detection among pregnant women Thalassemia carrier detection among pregnant women

Main Article Content

Edhyana Sahiratmadja
Merry M.V. Seu
Ita M. Nainggolan
Johanes C. Mose
Ramdan Panigoro


alpha-thalassemia; beta-thalassemia; trait; carrier, Nusa Tenggara Timur


Thalassemia major becomes the fifth catastrophic disease in Indonesia, however, national wide screening program is not mandatory. This study aimed to re-assess the validity of the various erythrocyte indices in determining ?-thalalssemia carrier among pregnant women in a low resource setting area. An analytic study was performed, comparing conventional cut-off various erythrocyte indices with new modified cut-offs by Kumar et al. The concordance analysis was calculated with Mentzer Index (MI) as reference. The validity of erythrocyte indices against hemoglobin (Hb) A2 were analysed, confirmed by molecular examination for ?- and common ?-Globin South East Asia population. Of 102 pregnant women, 34% was still anemic after completion of 90 iron pills. The concordance of conventional cut-off Shine & Lal index (<1530) was none to slight in agreement (kappa 0.097) to conventional cut-off MI (<13). The concordance of SLI increased significantly to substantial agreement when both used modified cut-offs (kappa 0.729). However, both SLI and MI had missed most of HbE carriers and ?-thalassemia carriers which seemed to be prevalent in this population as shown by DNA examination. In contrary, simple MCV<80fl and MCH<27pg had covered those carriers. This is the first study from Nusa Tenggara Timur, a low resource area in Indonesia in attempt to mass screen thalassemia carriers in this area where a simple MCV<80 fL and MCH<27pg have been used for preliminary screening rather than other indices. Since the population in eastern part of Indonesia has different genetic background compared to the west, DNA analysis is of great interest to map the spectrum of globin mutations.


Download data is not yet available.
Abstract 205 | PDF Downloads 108 HTML Downloads 53


1. Kohne E. Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. Dtsch Arztebl Int. 2011;108(31-32):532-40.
2. Kementerian Kesehatan Republik Indonesia. Direktorat Pencegahan dan Pengendalian Penyakit Tidak Menular. Pedoman pengendalian penyakit thalassemia di fasilitas kesehatan tingkat pertama. 2017.
3. Saffi M, Howard N. Exploring the Effectiveness of Mandatory Premarital Screening and Genetic Counselling Programmes for ?-Thalassaemia in the Middle East: A Scoping Review. Public Health Genomics. 2015;18(4):193-203.
4. Amato A, Cappabianca MP, Lerone M, Colosimo A, Grisanti P, Ponzini D, Di Biagio P, Perri M, Gianni D, Rinaldi S, Piscitelli R. Carrier screening for inherited haemoglobin disorders among secondary school students and young adults in Latium, Italy. J Community Genet. 2014;5(3):265-8.
5. WHO. Guideline: Daily iron and folic acid supplementation in pregnant women. Geneva, World Health Organization, 2012. ISBN-13: 978-924-150199-6.
6. Vehapoglu A, Ozgurhan G, Demir AD, Uzuner S, Nursoy MA, Turkmen S, Kacan A. Hematological indices for differential diagnosis of Beta thalassemia trait and iron deficiency anemia. Anemia. 2014;2014:576738.
7. Hoffmann JJ, Urrechaga E, Aguirre U. Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a meta-analysis. Clin Chem Lab Med. 2015;53(12):1883-94.
8. Plengsuree S, Punyamung M, Yanola J, Nanta S, Jaiping K, Maneewong K, Wongwiwatthananukit S, Pornprasert S. Red Cell Indices and Formulas Used in Differentiation of ?-Thalassemia Trait from Iron Deficiency in Thai Adults. Hemoglobin. 2015;39(4):235-9.
9. Harahap RIM, Prihatni D, Rostini T. The compatibility measurement of Mentzer, England & Faser, Shine & Lal, and Srivastava indices to the haemoglobin electrophoresis result for beta thalassemia trait screening. Bali Med J 2019; 8(2):311-5
10. Seu MMV, Mose JC, Panigoro R, Sahiratmadja E. Anemia Prevalence after Iron Supplementation among Pregnant Women in Midwifes Practice of Primary Health Care Facilities in Eastern Indonesia. Anemia. 2019;2019:1413906.
11. Gupta V, Sharma P, Jora R, Amandeep M, Kumar A. Screening for thalassemia carrier status in pregnancy and pre-natal diagnosis. Indian Pediatr. 2015;52(9):808-9.
12. Kumar A, Saha D, Kini J, Murali N, Chakraborti S, Adiga D. The role of discriminant functions in screening beta thalassemia trait and iron deficiency anemia among laboratory samples. J Lab Physicians. 2017;9(3):195-201.
13. Giordano PC, Harteveld CL, Bakker E. Genetic epidemiology and preventive healthcare in multiethnic societies: the hemoglobinopathies. Int J Environ Res Public Health. 2014;11(6):6136-46.
14. McHugh ML. Interrater reliability: the kappa statistic. Biochem Med (Zagreb). 2012;22(3):276-282.
15. Tumonggor MK, Karafet TM, Hallmark B, Lansing JS, Sudoyo H, Hammer MF, Cox MP. The Indonesian archipelago: an ancient genetic highway linking Asia and the Pacific. J Hum Genet. 2013;58(3):165-73.
16. Ahmadnezhad E, Sepehrvand N, Jahani FF, Hatami S, Kargar C, Mirmohammadkhani M, Bazargan-Hejazi S. Evaluation and cost analysis of national health policy of thalassaemiascreening in West-Azerbaijan province of Iran. Int J Prev Med. 2012;3(10):687-92.
17. Schoorl M, Schoorl M, van Pelt J, Bartels PC. Application of Innovative Hemocytometric Parameters and Algorithms for Improvement of Microcytic Anemia Discrimination. Hematol Rep. 2015;7(2):5843.
18. Susanti AI, Sahiratmadja E, Winarno G, Sugianli AK, Susanto H, Panigoro R. Low Hemoglobin among Pregnant Women in Midwives Practice of Primary Health Care, Jatinangor, Indonesia: Iron Deficiency Anemia or ?-Thalassemia Trait? Anemia. 2017;2017:6935648.
19. Baliyan M, Kumar M, Nangia A, Parakh N. Can RBC Indices be Used as screening test for beta-thalassemia in Indian antenatal women?. J Obstet Gynaecol India. 2019;69(6):495-500.
20. Verhovsek M, So CC, O'Shea T, Gibney GT, Ma ES, Steinberg MH, Chui DH. Is HbA2 level a reliable diagnostic measurement for ?-thalassemia trait in people with iron deficiency? Am J Hematol. 2012;87(1):114-6.
21. Urrechaga E, Hoffmann JJML. Critical appraisal of discriminant formulas for distinguishing thalassemia from iron deficiency in patients with microcytic anemia. Clin Chem Lab Med. 2017;55(10):1582-1591.
22. Maskoen AM, Reniarti L, Sahiratmadja E, Sisca J, Effendi SH. Shine & Lal index as a predictor for early detection of ?-thalassemia carriers in a limited resource area in Bandung, Indonesia. BMC Med Genet. 2019;20(1):136.
23. Rahimah AN, Nisha S, Safiah B, Roshida H, Punithawathy Y, Nurul H, et al. Distribution of alpha thalassaemia in 16 year old Malaysian Students in Penang, Melaka and Sabah. Med J Malaysia. 2012;67(6):565-70.
24. Li J, Xie XM, Liao C, Li DZ. Co-inheritance of ?-thalassaemia and ?-thalassaemia in a prenatal screening population in mainland China. J Med Screen. 2014;21(4):167-71.
25. Cao A, Kan YW. The prevention of thalassemia. Cold Spring Harb Perspect Med. 2013;3(2):a011775.
26. Chatterjee T, Chakravarty A, Chakravarty S. Population Screening and Prevention Strategies for Thalassemias and other Hemoglobinopathies of Eastern India: Experience of 18,166 cases. Hemoglobin. 2015;39(6):384-388.
27. Hashemizadeh H, Noori R. Premarital Screening of Beta Thalassemia Minor in north-east of Iran. Iran J Ped Hematol Oncol. 2013;3(1):210-5.
28. Ansari SH, Baig N, Shamsi TS, Saif-ur-Rehman, Ansari ZH, Behar Z, Perveen K, Erum S, Bukhari ZR, Khan MT, Akbar M. Screening immediate family members for carrier identification and counseling: a cost-effective and practical approach. J Pak Med Assoc. 2012;62(12):1314-7.
29. Sahiratmadja E, Maskoen AM, Effendy DSH, Panigoro R. Exploring the willingness for carrier screening among extended family members of a thalassemia carrier individual: a lesson learned. J of Biomed & Clin Sci 2017;2(2): 8-10 (Special Issue)